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Definition

A form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. MC3DN10 is an autosomal recessive form characterized by fetal bradycardia, poor feeding, hypotonia, hypertrophic cardiomyopathy, alopecia totalis, low mitochondrial complex III activity and lactic acidosis.

Acronym

MC3DN10

Synonyms

Mitochondrial complex III deficiency, nuclear type 10

Keywords

Primary mitochondrial disease

 
Disclaimer

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